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Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature (1998)

Santer, R. ; Schneppenheim, R. ; Suter, D. ; [et al.]

Springer

European journal of pediatrics 157 (1998), S. 783-797

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ISSN: 1432-1076

Keywords: Key words Fanconi-Bickel syndrome ; Facilitative glucose transport ; Glut2 ; Glycogen storage disease

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney. The disease was first described in a 3-year-old Swiss boy in 1949. Here we report a follow up of this original patient over more than 50 years and show that the typical clinical and laboratory findings of FBS (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature) persist into adulthood. We further summarize the historical observations that eventually led to the identification of the basic defect of FBS and give an overview of the 82 cases from 70 families in the published literature and from personal communications. Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage the ongoing study of patients with this disorder.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s004310050937

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Respiration rates and sugar utilization by marsupial spermatozoa (1978)

Rodger, John C. ; Suter, D. A. I.

New York, NY : Wiley-Blackwell

Gamete Research 1 (1978), S. 111-116

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ISSN: 0148-7280

Keywords: sperm ; respiration ; substrates ; marsupial ; possum ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology

Notes: This paper reports the first metabolic study of marsupial spermatozoa. The oxidative metabolism of the spermatozoa of the Australian brush-tailed possum (Trichosurus vulpecula) was examined using a micro Warburg system. Semen was collected by electro-ejaculation and washed twice in Ca2+ free Krebs-Ringer-phosphate buffer containing antibiotics (KRPA). Washed spermatozoa suspended in fresh KRPA, were then incubated for 3 hours at 37° C in the presence and absence of added substrates (4 mM). The exogenous substrates tested were N-acetylglucosamine, glucosamine, and glucose. Small quantities of radioactively labeled [14C] substrates were included in the incubation media to allow measurement of substrate oxidation.Although the respiratory rate varied considerably between semen pools (replicate experiments), the relationship between total oxygen consumption (measured manometrically), and oxygen consumption accounted for by exogenous substrate utilization (calcuated from radioactivity recovered in the respiratory CO2) was remarkably consistent. Oxidation of exogenous substrate accounted for 49-54% of the oxygen consumption, depending on the substrate used. There was, however, no evidence that addition of these substrates stimulated the respiratory rate over that found when no substrate was added. Lactate formation accounted for the greater part of exogenous substrate consumed.

Additional Material: 1 Tab.